埃及非小细胞肺癌患者中表皮生长因子受体（EGFR）基因多态性的检测：一项病例对照研究。

Detection of EGFR gene polymorphisms in non-small cell lung cancer Egyptian patients: a case-control study.

作者信息

El-Khawaga Omali Y, Al-Azzawy Mohammed F, ElSaid Afaf M, Refaat Sherif, El-Dawa Aliaa N

机构信息

Biochemistry Division, Chemistry Department, Faculty of Science, Mansoura University, Mansoura, 35516, Egypt.

Genetic unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, 35516, Egypt.

出版信息

Genes Environ. 2023 Nov 27;45(1):32. doi: 10.1186/s41021-023-00289-y.

DOI:10.1186/s41021-023-00289-y

PMID:38008767

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10680232/

Abstract

BACKGROUND

Non-Small Cell Lung Cancer displays several genetic mutations including epidermal growth factor receptor. This study's objective was to determine if the EGFR exon19 rs121913438 and exon21 rs121434568 variations play a role in NSCLC susceptibility.

METHODS

Case-control research was done at the Mansoura university oncology center including 124 NSCLC patients, and 124 healthy volunteers. blood was used to obtain genomic DNA. ARMS-PCR was used to genotype single-nucleotide polymorphisms.

RESULTS

Molecular study for EGFR exon 19 del. showed NSCLC cases were significantly associated with a higher proportion of heterozygous WD, WD + DD dominant genotypes, and mutant D allele, (p < 0.05 for each), with a risk to develop NSCLC. also, NSCLC cases were significantly associated with a higher proportion of heterozygous TG, TG + GG dominant genotype, G mutant allele, (p < 0.05 for each), with a risk to develop LC (OR > 1 for each). regarding the two EGFR mutations, TTF1 staining was significantly associated with WD + DD genotypes for EGFR exon 19 del But not EGFR exon 21. No substantial differences were found among all studied cases with CK7 or napsin A Tumor cytochemistry.

CONCLUSIONS

The WD heterozygous genotype and D allele in exon 19 del. mutation as well as the TG heterozygous and G allele in exon 21 substitution mutation in EGFR gene are strongly associated with the development of advanced-NSCLC in the Egyptians.

摘要

背景

非小细胞肺癌存在多种基因突变，包括表皮生长因子受体。本研究的目的是确定表皮生长因子受体（EGFR）外显子19的rs121913438和外显子21的rs121434568变异是否在非小细胞肺癌易感性中起作用。

方法

在曼苏拉大学肿瘤中心进行病例对照研究，包括124例非小细胞肺癌患者和124名健康志愿者。采集血液以获取基因组DNA。采用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）对单核苷酸多态性进行基因分型。

结果

对EGFR外显子19缺失的分子研究表明，非小细胞肺癌病例与杂合子WD、WD + DD显性基因型以及突变型D等位基因的比例较高显著相关（每项p < 0.05），存在患非小细胞肺癌的风险。此外，非小细胞肺癌病例与杂合子TG、TG + GG显性基因型、G突变等位基因的比例较高显著相关（每项p < 0.05），存在患肺癌的风险（每项比值比>1）。关于两种EGFR突变，甲状腺转录因子1（TTF1）染色与EGFR外显子19缺失的WD + DD基因型显著相关，但与EGFR外显子21无关。在所有研究病例中，细胞角蛋白7（CK7）或 napsin A肿瘤细胞化学未发现实质性差异。